Conditions / Syndrome

Wiedemann-Rautenstrauch syndrome

info · Syndrome

A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene

A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22.

Signs and symptoms

  • Reduced subcutaneous adipose tissue
  • Low-set ears
  • Slender long bone
  • Prominent scalp veins
  • Premature skin wrinkling
  • Prematurely aged appearance
  • Micrognathia
  • Dry skin
  • Prominent forehead
  • Generalized amyotrophy

Also known as: Neonatal progeroid syndrome; PROGEROID SYNDROME, NEONATAL